FINLAND - Professor Leena Peltonen (co-ordinator of NCoEDG)

Sari Kivikko (P.A. to Professor Peltonen), THL / Public Health Genomics Unit, Biomedicum Helsinki, P.O. Box 212 (Tukholmankatu 8), 00251 Helsinki, FINLAND

Tel:+358-20-610 8272

Fax:+358-20-610 8480

Email:

Web:http://research.med.helsinki.fi/molmed/groups/peltonen/peltonen_main.htm

main contacts

Professor Leena Peltonen

Our special niche in the current era of genetics is based on the well defined Finnish study samples: Large pedigrees ascertained for specific diseases and on the population cohorts, representing the whole populations, collected during past 15 years from various geographical regions.

Group Peltonen

To analyze our study samples, we have built an infrastructure facilitating efficient collection of genome-wide information of genetic background of diseases with complex etiology. We specifically aim to use genome-wide marker maps, genome-wide transcript analyses of target tissues, affected by the disease in human (biopsies) and model organisms, as well as new tools of biocomputing and biostatistics to identify common disease genes and their disease-associated alleles.

Our major projects involve hyperlipidemias and metabolic syndrome, multiple sclerosis and severe psychiatric disorders (like schizophrenia and bipolar disease). Although the main focus of our research is on disease-associated gene variants, our studies will further basic understanding of the relationship between genome structure and function, and the genomic architecture of genetic variation at the population level.

We have selected specific genome regions for our initial studies based on linked loci recognized in our genome-wide scans. So far we have been able to identify first putative DNA variants for the lactose intolerance on 2q, familial combined hyperlipidemia (FCHL) on 1q, for MS on 17q and schizophrenia on 1q. All associated variants do not change the coded protein but represent intronic or regulatory variants, creating challenges for future characterization of the molecular details of disease processes. Our program also belongs to the CoE in Complex Disease Genetics of the Academy of Finland for years 2006-11.

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